Search results for " Humans"

showing 10 items of 2466 documents

Is minor salivary gland biopsy more than a diagnostic tool in primary Sjorgren's syndrome? Association between clinical, histopathological, and molec…

2014

Objectives: Several histological scoring systems, including the focus score, performed in minor salivary glands (MSGs) by hematoxylin-eosin (H&E) staining, have been employed in clinical practice to assess the inflammatory infiltrate and provide the diagnosis of primary Sjorgren's syndrome (pSS). Aims of this study were to integrate different scoring systems and identify potential differences in the molecular profile of lymphoid cytokines related to germinal center (GC) formation and clinical subsets in pSS. Methods: Overall, 104 pSS patients and 40 subjects with sicca non-pSS were retrospectively evaluated. MSG biopsies were evaluated by H&E and immunofluorescence to assess histological pa…

MalePathologyT-LymphocytesBiopsyRetrospective Studiesalivary glands biopsyB-Lymphocytesmedicine.diagnostic_testbiologyLTαLTβMedicine (all)HypergammaglobulinemiaB-LymphocyteCXCL13CXCL12Middle AgedSjogren's syndrome salivary glands biopsySjogren's SyndromeCytokinesBAFFFemaleAntibodyHumanmusculoskeletal diseasesAdultmedicine.medical_specialtyBAFF; CCL19; CCL21; CCR7; CXCL12; CXCL13; CXCR4; CXCR5; Germinal center; LTα; LTβ; Minor salivary glands; Sjorgren's syndrome; Adult; B-Lymphocytes; Biomarkers; Biopsy; Cytokines; Female; Germinal Center; Humans; Male; Middle Aged; Retrospective Studies; Salivary Glands Minor; Sjogren's Syndrome; T-Lymphocytes; Rheumatology; Anesthesiology and Pain Medicine; Medicine (all)ImmunofluorescenceSalivary Glands MinorSalivary Glandstomatognathic systemRheumatologyInternal medicineBiopsyCCL19medicineHumansCXCL13B-cell activating factorCytokineRetrospective StudiesCXCR4Minor salivary glandbusiness.industryRetrospective cohort studyGerminal centerBiomarkermedicine.diseaseeye diseasesRheumatologyCXCR5Minorstomatognathic diseasesAnesthesiology and Pain MedicineT-LymphocyteSjorgren's syndromebiology.proteinbusinessBiomarkersCCL21CCR7
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Role of TGF-β Pathway Polymorphisms in Sporadic Thoracic Aortic Aneurysm: rs900 TGF-β2 Is a Marker of Differential Gender Susceptibility

2013

Thoracic aortic aneurysm (TAA) is a progressive disorder involving gradual dilation of ascending and/or descending thoracic aorta with dissection or rupture as complications. It occurs as sporadic or defined syndromes/familial forms.Genetic, molecular and cellular mechanims of sporadic TAA forms are poorly characterized and known. Thus, our interest has been focused on investigating the role of genetic variants of transforming growth factor-β(TGF-β) pathways in TAA risk. On the other hand, no data on the role of genetic variants of TGF-βpathway in sporadic TAA exist until now. In addition, other cytokines, including IL-10, orchestrate TAA pathophysiology. Their balance determines the ultima…

MalePathologyThoracicGene FrequencyProtein IsoformsThoracic aortaReceptorSingle Nucleotidesporadic TAAAdult; Aged; Aortic Aneurysm Thoracic; Female; Gene Frequency; Genotype; Humans; Interleukin-10; Male; Middle Aged; Protein Isoforms; Regression Analysis; Sex Factors; Transforming Growth Factor beta2; Genetic Predisposition to Disease; Polymorphism Single NucleotideMiddle AgedPathophysiologyAortic AneurysmInterleukin-10Interleukin 10Regression AnalysisFemaleInflammationResearch Articlelcsh:RB1-214TGF-beta SNPAdultmedicine.medical_specialtyArticle SubjectGenotypeImmunologyBiologyPolymorphism Single NucleotideThoracic aortic aneurysmcomplex mixturesTransforming Growth Factor beta2Sex Factorsmedicine.arteryparasitic diseasesmedicinelcsh:PathologyHumansSNPSettore MED/05 - Patologia ClinicaGenetic Predisposition to DiseasePolymorphismAllele frequencyAgedSettore MED/04 - Patologia GeneraleAortic Aneurysm ThoracicSettore MED/23 - Chirurgia CardiacaCell Biologymedicine.diseasedigestive system diseasesTransforming growth factorTGF-beta SNPs; sporadic TAA; InflammationMediators of Inflammation
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Identification of Three Particular Morphological Phenotypes in Sporadic Thoracic Aortic Aneurysm: Phenotype III As Sporadic Thoracic Aortic Aneurysm …

2014

Abstract Aging has a striking impact on the heart and the vascular system, particularly on the large elastic arteries (i.e., aorta), resulting in a multitude of changes at different structural and functional levels. As result, medial degeneration (MD) occurs. A characteristic example of MD is sporadic thoracic aortic aneurysm (S-TAA), whose patho-physiological mechanisms remain unclear. In this study, typical MD morphological phenotypes were researched in S-TAA cases and control aorta specimens by histopathological and immunohistochemical analyses. Three phenotypes (I, II, and III) were detected, but mainly the phenotype III was observed. Elevated cystic MD, plurifocal medial apoptosis, and…

MalePathologymedicine.medical_specialtyAgingThoracicAging; Aorta; Aortic Aneurysm Thoracic; Biomarkers; Female; Humans; Male; Middle Aged; PhenotypeDissection (medical)Settore MED/08 - Anatomia PatologicaThoracic aortic aneurysmAneurysmmedicine.arteryMedicineHumansSettore MED/05 - Patologia ClinicaAortaSettore MED/04 - Patologia GeneraleAortaSurgical approachAortic Aneurysm Thoracicbusiness.industrySettore MED/23 - Chirurgia CardiacaMiddle Agedmedicine.diseaseTAA phenotype IIIPhenotypeAortic AneurysmPhenotypeImmunohistochemistryBiomarker (medicine)FemaleGeriatrics and GerontologybusinessBiomarkers
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IL-33 is overexpressed in the inflamed arteries of patients with giant cell arteritis.

2013

OBJECTIVE: To study the expression of interleukin (IL)-33 and to evaluate its relationship with macrophage polarisation in artery biopsy specimens from patients with giant cell arteritis (GCA). METHODS: IL-33, ST2, p-STAT-6 and perivascular IL-1 receptor-associated kinase 1 (p-IRAK1) tissue distribution was evaluated by immunohistochemistry. Inducible nitric oxide synthase and CD163 were also used by immunohistochemistry to evaluate the M1 and M2 polarisation, respectively. Quantitative gene expression analysis of IL-33, T-helper (Th)2-related transcription factor STAT6, Th2 cytokines (IL-4, IL-5, IL-25) and interferon (IFN)-γ was performed in artery biopsy samples obtained from 20 patients…

MalePathologymedicine.medical_specialtyImmunologyGiant Cell ArteritisInflammationGeneral Biochemistry Genetics and Molecular BiologyGiant cell arteritis IL-33 macrophagesRheumatologyGiant cell arteritiImmunology and AllergyMedicineHumansReceptorSTAT6AgedAged 80 and overInflammationAged; Aged 80 and over; Female; Giant Cell Arteritis; Humans; Immunohistochemistry; Inflammation; Interleukins; Male; Middle Aged; Reverse Transcriptase Polymerase Chain Reaction; Temporal Arteries; Transcriptomebusiness.industryReverse Transcriptase Polymerase Chain ReactionInterleukinsInterleukinMiddle Agedmedicine.diseaseInterleukin-33ImmunohistochemistryTemporal ArteriesmacrophagesInterleukin 33Giant cell arteritisIL-33ImmunohistochemistryFemalemedicine.symptombusinessTranscriptomeCD163
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Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

2008

The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type V…

MalePathologymedicine.medical_specialtyNav1.5 protein functionv1.5 protein functionmedia_common.quotation_subject2734Nonsense mutationNonsenseNa+ channel functionMuscle ProteinsSocio-culturaleBiology+Nav1.5 protein function; Na+ channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutation; Codon Nonsense; Diseases in Twins; Humans; Infant; Male; Muscle Proteins; NAV1.5 Voltage-Gated Sodium Channel; Sodium Channels; Sudden Infant Death; 2734Sudden deathSodium ChannelsNAV1.5 Voltage-Gated Sodium ChannelPathology and Forensic MedicinePathogenesisSCN5A gene mutationDiseases in TwinsmedicineHumansSimultaneous sudden infant death syndromeSCN5A gene mutationW822X mutationNa+ channel functionNav1.5 protein functionNaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein function CodonMolecular BiologyCellular localizationmedia_commonSimultaneous sudden infant death syndromeSettore BIO/16 - Anatomia UmanaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein functionW822X mutationInfantCell BiologyGeneral MedicineSudden infant death syndromeNonsenseTerminal deoxynucleotidyl transferaseCodon NonsenseImmunohistochemistryNa; v; 1.5 protein function; Na; +; channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutationchannel functionSudden Infant Death
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Features of biopsy in diagnosis of metatypical basal cell carcinoma (Basosquamous Carcinoma) of head and neck

2012

Metatypical Basal Cell Carcinoma, also known as Basosquamous Carcinoma is a subtype of Basal Cell Carcinoma. It is similar to Basal Cell Carcinoma for the gross aspect and regional recurrences, but it has the capacity to spread and develop metastasis. This terrible characteristic endangers the life of the patient if it is not readily recognized by the physicians. Herein we present a report of two patients affected by BSC originating in the nasal region and external ear that after a series of devastating local recurrences metastasized to the lung and bones in one case. The true incidence of Basoquamous Carcinoma may be higher, with underreporting arising because of rarity of diagnosis and la…

MalePathologymedicine.medical_specialtySkin NeoplasmsNose NeoplasmsMetastasisBasosquamous carcinomaCarcinoma BasosquamousBiopsyCarcinomaHumansMedicineBasal cell carcinomaEar ExternalHead and neckEar NeoplasmsLungmedicine.diagnostic_testbusiness.industryMiddle Agedmedicine.diseaseBasal cell carcinoma Basosquamous carcinoma Head and neck tumour Skin carcinoma Skin tumour Carcinoma Basosquamous Ear Neoplasms Ear External Treatment Outcome Nose Neoplasms Skin Neoplasms Middle Aged Humans MaleTreatment Outcomemedicine.anatomical_structureOtorhinolaryngologybusinessSkin CarcinomaOtolaryngologia Polska
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Malignant teratoma in Klippel-Feil syndrome: a case report and review of the literature

2015

Introduction: Klippel-Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors. Teratomas with malignant transformation refer to lesions which give rise to malignant cancer of somatic type. The association between tumors of dermoid origin and Klippel-Feil malformation is extremely rare. Only 23 other cases have so far been reported, and only one case of dermoid tumor with areas of dedifferentiation on squamous cell carcinoma has been described. Case presentation: We report the case of a 72-year-old white man with a 2-year history of gait and balance di…

MalePathologymedicine.medical_specialtyVertebral arteryKlippel–Feil syndromeCase ReportKlippel-Feil syndromeFourth ventricleKlippel–Feil syndromeMalignant transformationCervical spine Dermoid tumor Klippel–Feil syndrome Pathology Posterior fossa TeratomaPosterior fossamedicine.arteryCervical spinemedicinePathologyHumansAgedDermoid CystMedicine(all)medicine.diagnostic_testbusiness.industryCervical spine; Dermoid tumor; Klippel-Feil syndrome; Pathology; Posterior fossa; Teratoma; Aged; Cervical Vertebrae; Cranial Fossa Posterior; Dermoid Cyst; Gait Apraxia; Humans; Klippel-Feil Syndrome; Magnetic Resonance Imaging; Male; Teratoma; Tomography X-Ray Computed; Treatment Outcome; Medicine (all)Medicine (all)TeratomaMagnetic resonance imagingGeneral Medicinemedicine.diseaseMagnetic Resonance ImagingGait ApraxiaTreatment OutcomeDermoid cystCranial Fossa PosteriorCervical VertebraeGerm cell tumorsTeratomabusinessTomography X-Ray ComputedDermoid tumorHuman
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Is bodyweight affecting plantar pressure distribution in children?

2020

Abstract The aim of this study is twofold: firstly, to investigate the plantar pressure distribution differences in children coming from 4 different weight categories and secondly to analyze the presence of sex-related plantar pressure distribution differences. Overall, 416 children, aged 7 to 12 years old were randomly selected from 6 different local schools, and voluntarily participated in the study. Two hundred twenty six of them were men, while 190 were women (mean age: 9.93 ± 1.02 years; height: 1.39 ± 0.8 m; body mass: 37.76 ± 10.34 kg; BMI: 19.24 ± 4.02 kg/m2). Based on the body mass index (BMI) the sample was grouped in the following categories: underweight (UW); normal weight (NW);…

MalePediatric ObesityobesityObservational StudyOverweight03 medical and health sciences0302 clinical medicinechildrenFoot JointsHumansMedicine030212 general & internal medicineChildOrthodonticsSex CharacteristicsChildren Foot Obesity Plantar pressure Child Female Foot Foot Joints Humans Male Pediatric Obesity Sex Characteristics Body Weightbusiness.industryForefootBody WeightGeneral Medicine6200body regionsfoot030220 oncology & carcinogenesisplantar pressureMann–Whitney U testFemaleObservational studymedicine.symptomUnderweightbusinessBody mass indexFoot (unit)Research ArticleSex characteristicsMedicine
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Clinical features and follow-up in patients with 22q11.2 deletion syndrome

2014

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…

MalePediatrics22q11.2 deletionDelayed DiagnosisTime FactorsChromosomes Human Pair 22Developmental Disabilitiesdigeorge syndromeSex FactorSeverity of Illness IndexRetrospective StudieDiGeorge syndromeEarly DiagnosiAge FactorProspective StudiesNeonatal hypocalcemiaProspective cohort studyChildmedicine.diagnostic_testDelayed Diagnosi22q11.2 deletion; Primary immune disordersAge Factorsdel 22qMIMAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease ProgressionChild PreschoolCohortDisease ProgressionPrimary immune disordersFemaleAbnormalitiesMultipleAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child HealthHumanAdultmedicine.medical_specialtyTime FactorAdolescentMonitoringDevelopmental DisabilitieItalian Association of Pediatric Haematology and OncologyContext (language use)Risk AssessmentChromosomesFollow-Up StudieYoung AdultSex FactorsSeverity of illnessmedicineDiGeorge SyndromeHumansAbnormalities MultipleGenetic Testing22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man22q11DSPreschoolPhysiologicdigeorge syndrome; del 22qGenetic testingMonitoring PhysiologicRetrospective StudiesSettore MED/38 - Pediatria Generale e Specialisticabusiness.industryMendelian Inheritance in ManInfant NewbornInfantRetrospective cohort studymedicine.diseaseNewbornAIEOPProspective StudieEarly Diagnosis22q11.2 deletion syndromePediatrics Perinatology and Child HealthPair 22businessFollow-Up Studies
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Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observation…

2019

Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod™ electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of naïve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children naïve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Result…

MalePediatricsDatabases FactualChildren; ECOS; GHD; Growth hormone; Short statureEndocrinology Diabetes and MetabolismChildren; ECOS; GHD; Growth hormone; Short stature;Children; ECOS; GHD; Growth hormone; Short stature; Adolescent; Child; Cohort Studies; Databases Factual; Dwarfism Pituitary; Female; Growth Disorders; Human Growth Hormone; Humans; Italy; Male; Medication Adherence; Telemedicine; Medical Records Systems Computerized; Wearable Electronic DevicesGrowth hormoneCohort Studies0302 clinical medicineEndocrinologyChildChildrenGrowth DisordersHuman Growth HormoneChildren ECOS GHD Growth hormone Short statureObjective measurementSettore MED/38TelemedicineItaly030220 oncology & carcinogenesisCohortFemaleOriginal ArticleMedical Records Systemsmedicine.symptomCohort studymedicine.medical_specialtyAdolescentMedical Records Systems ComputerizedDwarfism030209 endocrinology & metabolismShort statureMedication AdherenceDatabasesWearable Electronic Devices03 medical and health sciencesmedicineHumansIn patientDwarfism PituitaryGrowth hormoneFactualbusiness.industryComputerizedShort staturePituitaryGh treatmentECOSObservational studybusinessGHDJournal of Endocrinological Investigation
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